MEDizzy - A 6 month old untransfused child presented with lethargy,

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Thalassemia Syndromes

A 6 month old untransfused child presented with lethargy, failure to thrive and looking pale. CBC is showing Hb of 5.6, MCV-58 fl and peripheral blood picture showing microcytic hypochromic red cells, target cells and anisopoikilocytosis. Hb HPLC is showing Hb F of 100%. The most likely diagnosis is:

ExplanationC. The child is having β thalassemia major • HPFH does not present with severe anemia • δβ thalassemia present with thalassemia intermedia syndrome with presentation in later childhood and not at 6 months of age. • α-thalassemia presents with Hb Bart’s hydrops fetalis syndrome and manifests intranatally, but Hb H disease can present with severe anemia and behaves like thalassemia major, but most patients have a much milder course.